Duchenne Muscular Dystrophy (DMD) Test

First-Line Genetic Test for DMD & Becker Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is the most common inherited muscular dystrophy, characterized by progressive muscle weakness, delayed motor milestones, frequent falls, and markedly elevated CK levels. Approximately 70–80% of DMD/BMD cases are caused by deletions or duplications of one or more exons in the DMD gene.

MLPA testing can detect:

✓ Single exon deletions

✓ Multi-exon deletions

✓ Exon duplications

✓ Female carriers

Who Should Be Tested?

Children with suspected DMD/BMD

Individuals with unexplained elevated CK

Female relatives of affected individuals

Families requiring carrier testing

Method
  • MLPA
Specimen
  • Blood
TAT
  • 12 days

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